[A baby boy with cryptorchism, inguinal hernia and internal female genitalia: the persistent Mullerian duct syndrome]
SourceNederlands Tijdschrift voor Geneeskunde, 148, 10, (2004), pp. 484-7
Article / Letter to editor
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Paediatrics - OUD tm 2017
Nederlands Tijdschrift voor Geneeskunde
SubjectUMCN 2.1: Heart, lung and circulation; UMCN 4.1: Microbial pathogenesis and host defense; UMCN 4.3: Tissue engineering and reconstructive surgery; UMCN 5.2: Endocrinology and reproduction
During operation for a right inguinal hernia, a baby boy aged 3 months was discovered to have internal female genitalia. Biopsies were taken from the gonads and blood was sent for karyotyping. The biopsies showed normal testicular tissue and the karyotyping result was 46XY, so the diagnosis of persistent Mullerian duct syndrome (PMDS) was made. Recovery was uneventful. At the age of 2 he underwent bilateral orchidopexy. PMDS is a rare disorder of the MIF synthesis or receptor. Patients present with cryptorchism, inguinal herniation of Mullerian structures, or problems related to the abnormal urinary tract, such as infection or stone formation. In cryptorchism, orchidopexy and life-long palpatory follow-up are advised. If urological symptoms occur, surgical removal of the Mullerian remnants may be considered. The prognosis for fertility is poor.
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